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Prioritizing diversity in human genomics research

Key Points

  • Knowledge of how genomic variants vary by population increases our ability to understand genomic contributions to health and disease and to apply this knowledge to clinical care.

  • In addition to producing more robust science, studies involving diverse participants facilitate a more equitable distribution of resulting benefits.

  • Existing obstacles related to study enrolment and analysis can be overcome by rigorous attention to community engagement and analytic strategies, although this may come at the expense of expediency and convenience.

  • Researchers, funding agencies and journal editors have roles to play in increasing the inclusion of diverse participants and populations, prioritizing diversity-related research and raising publication standards, respectively.

Abstract

Recent studies have highlighted the imperatives of including diverse and under-represented individuals in human genomics research and the striking gaps in attaining that inclusion. With its multidecade experience in supporting research and policy efforts in human genomics, the National Human Genome Research Institute is committed to establishing foundational approaches to study the role of genomic variation in health and disease that include diverse populations. Large-scale efforts to understand biology and health have yielded key scientific findings, lessons and recommendations on how to increase diversity in genomic research studies and the genomic research workforce. Increased attention to diversity will increase the accuracy, utility and acceptability of using genomic information for clinical care.

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Figure 1: Shared genomic variation across global populations.

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Acknowledgements

The authors thank L. Brooks, A. Felsenfeld, T. Gatlin, G. Ginsburg, B. Graham, M. Hahn, G. Jarvik, D. Kaufman, R. Li, N. Lockhart, E. Madden, J. McEwen, J. Mulvihill, G. Petersen, D. Roden, L. Rodriguez, C. Rotimi, H. Sofia, J. Troyer, M. Williams and A. Wise for valuable discussion and feedback. The authors are grateful to the investigators supported by the US National Human Genome Research Institute (NHGRI) and the individuals who have participated in NHGRI-supported research for their contributions to further diversity-related efforts in genomics.

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Contributions

L.A.H. and M.E.C.G. researched data for the article. L.A.H., T.A.M., V.L.B., L.C.B., C.M.H. and E.D.G. substantially contributed to discussions of the content. L.A.H. and E.D.G. wrote the article. All authors reviewed and/or edited the manuscript before submission.

Corresponding author

Correspondence to Lucia A. Hindorff.

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The authors declare no competing financial interests.

Related links

DATABASES

GWAS Catalog

dbGaP

ClinVar

Exome Variant Server

Genome Aggregation Database (gnomAD)

Exome Aggregation Consortium (ExAC) Database

FURTHER INFORMATION

1000 Genomes Project

The Cancer Genome Atlas (TCGA)

Centers for Common Disease Genomics (CCDG)

Clinical Sequencing Evidence-Generating Research (CSER)

Diversity Action Plan

DNA Polymorphism Discovery Resource

Electronic Medical Records and Genomics (eMERGE)

Ethical, Legal and Social Implications (ELSI)

Genome Reference Consortium (GRC)

GWAS Catalog

High-quality reference genomes programme

Human Heredity and Health in Africa (H3Africa) Initiative

Implementing Genomics in Practice (IGNITE)

The International HapMap Project (HapMap)

NHGRI Community Engagement in Genomics Working Group (CEGWG)

Population Architecture using Genomics and Epidemiology (PAGE)

Roundtable on inclusion and engagement of underrepresented populations in genomics

PowerPoint slides

Glossary

Admixture

The interbreeding of individuals from two isolated populations; often used in the context of ancestry arising from two or more continents of origin (for example, admixed populations).

Allele frequency

A measure of the frequency of a particular allele relative to all alleles in a population; typically expressed as a percentage.

Genome-wide association studies

(GWAS). An approach used to associate specific genomic variants with particular diseases by scanning the genomes from many different people and looking for genomic markers that can be used to predict the presence of a disease.

Haplotype structure

A pattern or block-like structure comprising a set of DNA variations, or polymorphisms, that tend to be inherited together. A haplotype can refer to a combination of alleles or to a set of single nucleotide polymorphisms found on the same chromosome.

Imputation

A statistical approach to predicting unobserved genotypes in a study population by use of known genotypes from a reference population.

Linkage disequilibrium

The nonrandom association of alleles at different loci; a sensitive indicator of the population genetic forces that structure a genome.

Pathogenic

Pathogenicity classification for a genomic alteration that increases an individual's susceptibility or predisposition to a certain disease or disorder.

Population stratification

Differences in allele frequencies between cases and controls due to systematic differences in ancestry rather than association of genes with disease.

Reference sequence

A genomic sequence representative of a particular species' sequence, often used to align and analyse genome sequences from participants in human genomic studies.

Secondary findings

Genomic test results that do not pertain to the primary diagnostic question or reason for testing; also referred to as incidental or additional findings.

Trans-ethnic fine mapping

An approach to refine initial GWAS results by leveraging differences in the degree of linkage disequilibrium among multiethnic populations, narrowing the genomic region in which a causal variant may reside.

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Hindorff, L., Bonham, V., Brody, L. et al. Prioritizing diversity in human genomics research. Nat Rev Genet 19, 175–185 (2018). https://doi.org/10.1038/nrg.2017.89

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